When the second comes first- rhabdomyosarcoma preceding heritable retinoblastoma- a case report.

BACKGROUND: Retinoblastoma (rb) is the most frequent intraocular tumor, accounting for 3% of all childhood cancers. Heritable rb survivors are germline carriers for an RB1 mutation and have a lifelong risk to develop non-ocular second primary tumors (SPTs) involving multiple other organs like the bones, soft tissues, or skin. These SPTs usually become manifest several years succeeding the diagnosis of rb. In our instance, however, a non-ocular SPT presented prior to the diagnosis of heritable rb. CASE PRESENTATION: We report a rare case of a monozygotic twin who presented with primary rhabdomyosarcoma (RMS) preceding the manifestation of heritable rb. The rb was diagnosed when the child developed strabismus while already on therapy for the RMS. The child underwent therapy for both as per defined treatment protocols. The rb regressed well on treatment, but the RMS relapsed and the child developed multiple refractory metastatic foci and succumbed to his disease. CONCLUSIONS: Non-ocular SPTs like sarcomas are usually known to manifest in heritable rb survivors with a lag of two to three decades (earlier if exposure to radiation is present) from the presentation of the rb. However, in our case, this seemed to be reversed with the RMS being manifest at an unusual early age and the rb being diagnosed at a later point in time.

Multiple Small Floaters Associated With Silicone Oil Droplets Following Intravitreal Pegcetacoplan Injection.

This case series analyzes the presence of floaters associated with silicone oil droplets after intravitreal pegcetacoplan injection.

Cavitary Choroidal Nevus Showing Thickness Fluctuations in Response to Anti-VEGF Therapy for Diabetic Macular Edema: A Case Report.

PURPOSE: To report the multimodal imaging features of a cavitary choroidal nevus showing thickness fluctuations that mirrored the response of diabetic macular edema (DME) to intravitreal anti-vascular endothelial growth factor (VEGF) therapy. METHODS: Retrospective case report. Multimodal imaging findings including fundus photography, optical coherence tomography (OCT), fluorescein (FA) and indocyanine green angiography (ICGA), OCT-angiography (OCTA), and B-scan ultrasonography were analyzed. RESULTS: A female in her 80s with a cavitary choroidal nevus and DME was treated with intravitreal anti-VEGF therapy using a pro re nata regimen over 5 years. The choroidal nevus showed thickness fluctuations paralleling the response of DME to anti-VEGF therapy. Worsening of the DME was associated with marked increased choroidal lesion thickness on OCT. Conversely, resolution of DME after intravitreal anti-VEGF injections was followed by choroidal lesion flattening on OCT. Variations of the choroidal lesion thickness were mainly dependent on changes of intralesional hyporeflective caverns on OCT. CONCLUSION: Our report shows thickness variations of a cavitary choroidal nevus that paralleled the clinical course of DME treated with intravitreal anti-VEGF therapy. To the best of our knowledge, this is the first report on volume variations of a cavitary choroidal nevus following anti-VEGF therapy.

Valsalva-Induced Spontaneous Suprachoroidal Hemorrhage: A Case Report and Review of the Literature.

We report a rare case of spontaneous suprachoroidal hemorrhage and present a systematic review of the literature using PubMed/Medline databases. Patients that developed a spontaneous suprachoroidal hemorrhage with a history of previous intraocular surgery were excluded. An 82-year-old male patient with no known ocular pathologies or surgical history was referred with acute ocular pain and decreased vision in the right eye (BCVA: 0.6 with hyperopic correction) following a Valsalva maneuver. General history included chronic heart failure and coronary artery disease, treated with anticoagulant and antihypertensive drugs. Dilated fundus examination revealed a posterior red-brown choroidal mass, with a thickness of 1.5 mm on B-scan ultrasonography. The lesion was not visible on fluorescein or indocyanine green angiography and was located under the choroid on B-scan optical coherence tomography. The diagnosis of a spontaneous suprachoroidal hemorrhage was evoked, and the patient was observed. Five months later, BCVA was 1.0 uncorrected, with a normal-appearing fundus. In a literature review, eight cases of spontaneous suprachoroidal hemorrhage following an episode of increased intrathoracic pressure were identified, including our patient. M/F ratio was 1 : 1, with a median age of 66.5 years. All cases presented systemic pathologies. All cases presented with a unilateral suprachoroidal hemorrhage. Only 2/8 patients had ocular comorbidities. Complications requiring treatment were noted in 4/8 cases, including 2 cases that resulted in the loss of the vision following an acute angle-closure glaucoma. Spontaneous resolution of the hemorrhage was observed in the other 4 patients. In 6/8 cases, vision recovered over a mean period of 10 weeks. In conclusion, spontaneous suprachoroidal hemorrhage following a Valsalva maneuver in eyes with no history of ocular surgery or trauma is rare, and has been associated with advanced age, cardiovascular disease and asthma. In severe cases (2/8) the eye was lost, while most cases (6/8) recovered, presenting a good visual outcome.